Diastematomyelia: Prenatal ultrasonic appearances

Winter, R; McKnight, Liam; Byrne, RA; Wright, Craig

doi:10.1016/s0009-9260(89)80206-5

Cited by 24 publications

(26 citation statements)

References 9 publications

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“…Indeed, the pregnancy proceeded uneventfully to term in both cases and the infants have been asymptomatic from the neurological and orthopaedic point of view up to 18 months of age. To our knowledge, prenatal diagnosis of diastematomyelia has been previously reported in 13 cases (Williams and Barth, 1985;Winter et al, 1989;Caspi et al, 1990;Pachi et al, 1992;Boulot et al, 1993;Anderson et al, 1994). Table I displays the principal ultrasonographic findings and the pregnancy outcome of all these cases, and includes the two reported here.…”

Section: Discussionmentioning

confidence: 96%

Prenatal Diagnosis of Diastematomyelia: Case Reports and Review of the Literature

et al. 1997

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Section: Discussionmentioning

confidence: 96%

Prenatal Diagnosis of Diastematomyelia: Case Reports and Review of the Literature

et al. 1997

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“…Capillary haemangioma (26%), dermal sinuses (22%) and subcutaneous lipomas (11%) are also identified. 6 It can also be associated with visceral malformations like horseshoe or ectopic kidney, utero-ovarian and anorectal malformations. In this condition, the fetal head and posterior fossa are normal without Arnold Chiari malformation.…”

Section: Discussionmentioning

confidence: 99%

Case Report: Prenatal Ultrasound Diagnosis of Fetal Diastematomyelia

Kumar¹,

Sarmah²,

Kumar³

2006

Ultrasound

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Diastematomyelia is a rare congenital malformation in which the spinal cord is divided completely or incompletely by osseous or fibrocartilagenous septum. The division is often asymmetrical and is thought to occur due to splitting of the notochord secondary to adhesions between ecto-and entoderm. Most cases are often associated with the abnormalities of the vertebral bodies, including fusion defects, hemi-vertebrae, hypoplasia, kyphoscoliosis, spinabifida and meningomyelocele. In this report, we describe a case of isolated diastematomyelia of mid-lumbar region detected at 17 weeks of gestation by ultrasound scan. The most striking feature being, detection of the wide lumbar spine from L2 to L4 with intact skin. MRI revealed the split cord with intervening bony spur. Ultrasound scan was performed after birth of the infant to evaluate the defect that confirmed diastematomyelia. Surgical repair of the defect was performed at around 6 months of age. A total of 16 cases of prenatally diagnosed diastematomyelia have been reported in the literature, all with a specific sonographic appearance. A 31-year-old white woman, gravida 4 para 3, was referred at 17 weeks of gestation for evaluation of the fetal spine. There had been suspicion about the fetal spine on sonogram at the dating scan. MSAFP screening at 16 weeks of gestation was normal. A detailed evaluation of the fetal anatomy was performed at 17 weeks and 5 days of gestation. There was evidence of widened lumbar spine from L2/3 to L5 with intact skin. Coronal view of lumbar spine showed the presence of a midline echogenic bony spur. This feature could be associated with neurological problems (lower limb weakness and bladder problems) of variable severity. However, at that time, the limb movements were entirely normal. At 24 weeks of gestation, a repeat ultrasound scan was done and the findings were consistent with fetal diastematomyelia. MRI at 28 weeks of gestation confirmed mid-lumbar diastematomyelia. Images of axial views showed the cord split by the bony spur. Brain appeared normal with no evidence of Chiari malformation. At that time the couple declined paediatric neurologist consultation.At 38 weeks of gestation, spontaneous vaginal delivery resulted in the birth of a 2980-g female infant. On physical examination, the newborn was noted to have a circular patch of hair growth in the lower back region with a sacral dimple. There were no signs of neurological deficits, and the baby was moving its limbs. Bladder and bowel function were normal. An ultrasound scan was performed on the infant on day 1 of life, which showed diastematomyelia with split tethered cord and a bony spur. The thoracic spine and spinal cord appeared normal.At 6 months of age surgery was undertaken. This involved the untethering of the spinal cord and the removal of the bony spur with the dural sheath around, so recreating a single tube of dura. The filum terminale was found to be divided. The baby is now 15 months old and has no residual complications, medical or neurological.

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“…Winter et al [1989] drew attention to the prenatal diagnosis of diastematomyelia and recently Sepulveda et al [1997] reported on 2 cases of prenatally diagnosed diastematomyelia by routine 2nd-trimester sonography. For these reasons, parents should be counseled about the possible recurrence of diastematomyelia in sibs.…”

Section: Discussionmentioning

confidence: 99%

Diastematomyelia in two sisters

1999

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Diastematomyelia is a rare spinal cord anomaly that usually occurs in a non-syndromal, sporadic manner; however, few familial cases have been reported. We report on diastematomyelia in 2 sisters with variable expressivity. The spinal column is divided by osseous or fibrous tissue. This may be responsible for the variable expressivity. Most cases previously reported were females. This suggests X-linked dominant inheritance with lethality in hemizygous males or female sex limitation of a multifactorial trait.

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Diastematomyelia: Prenatal ultrasonic appearances

Cited by 24 publications

References 9 publications

Prenatal Diagnosis of Diastematomyelia: Case Reports and Review of the Literature

Prenatal Diagnosis of Diastematomyelia: Case Reports and Review of the Literature

Case Report: Prenatal Ultrasound Diagnosis of Fetal Diastematomyelia

Diastematomyelia in two sisters

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